{"id":"W2761333677","doi":"10.24870/cjb.2017-a69","title":"Exome Sequencing for cerebral palsies: Opening windows for differential diagnosis","year":2017,"lang":"en","type":"article","venue":"Canadian Journal of Biotechnology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Exome sequencing; Differential diagnosis; Medicine; Differential (mechanical device); Biology; Pathology; Genetics; Mutation; Gene; Engineering","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002046684,0.000673053,0.001101503,0.002031994,0.0003338359,0.00151932,0.0005926955,0.001265883,0.005000946],"category_scores_gemma":[0.003365792,0.0002862964,0.0006815653,0.001033308,0.0003979594,0.001621673,0.001685879,0.001974188,0.00160706],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004142679,"about_ca_system_score_gemma":0.0004792643,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000390182,"about_ca_topic_score_gemma":0.0006988751,"domain_scores_codex":[0.99919,0.0002292597,0.00007480825,0.0002575105,0.0001899354,0.00005839294],"domain_scores_gemma":[0.997865,0.001152705,0.0001927315,0.0002279033,0.0002950874,0.0002665156],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001358655,0.0001523247,0.0414127,0.00249616,0.0007954435,0.008180028,0.0007111651,0.001713402,0.2075551,0.01526905,0.07912322,0.6412327],"study_design_scores_gemma":[0.0003031483,0.0007381585,0.15411,0.003778063,0.0008539432,0.0420693,0.00128703,0.01856679,0.08537137,0.0880558,0.6044625,0.000403949],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.2008693,0.2058383,0.4449206,0.06950979,0.004376071,0.0004795214,0.0381246,0.009643914,0.02623794],"genre_scores_gemma":[0.4564064,0.1022056,0.3709913,0.01819555,0.00464628,0.0008109592,0.02700104,0.001627499,0.01811546],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.005000946,"threshold_uncertainty_score":0.01672983,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02313916856822901,"score_gpt":0.257060325376922,"score_spread":0.233921156808693,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}